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Isoform C of Prelamin-A/C AlphaSync

Canonical isoform description: Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane^1,2,3. Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics^4,5. Lamin A and C also regulate matrix stiffness by conferring nuclear mechanical properties (By similarity). The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively^6,7. Lamin A and C are present in equal amounts in the lamina of mammals (By similarity). Also involved in DNA repair: recruited by DNA repair proteins XRCC4 and IFFO1 to the DNA double-strand breaks (DSBs) to prevent chromosome translocation by immobilizing broken DNA ends (By similarity). Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation^8,9,10. Required for osteoblastogenesis and bone formation (By similarity). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone^11,12. Required for cardiac homeostasis¹³. Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence. Isoform C2 may have a role in determining the organization of nuclear and chromosomal structures during spermatogenesis.

AlphaFold DB , UniProt , Accession P48678-2 (canonical: P48678), Species MOUSE (Mus musculus, Mouse), Gene Lmna, Length 574 aa.